Open AccessLongitudinal trajectories of amyloid deposition, cortical thickness, and tau in Down syndrome: A deep‐phenotyping case report
Author(s) -
Mak Elijah,
Bickerton Anastasia,
Padilla Concepcion,
Walpert Madeleine J.,
Annus Tiina,
Wilson Liam R.,
Hong Young T.,
Fryer Tim D.,
Coles Jonathan P.,
Aigbirhio Franklin I.,
Christian Bradley T.,
Handen Benjamin L.,
Klunk William E.,
Me David K.,
Nestor Peter J.,
Zaman Shahid H.,
Holland Anthony J.
Publication year - 2019
Publication title -
alzheimer's and dementia: diagnosis, assessment and disease monitoring
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.497
H-Index - 37
ISSN - 2352-8729
DOI - 10.1016/j.dadm.2019.04.006
Subject(s) - neuroimaging , dementia , neuropsychology , amyloid (mycology) , alzheimer's disease neuroimaging initiative , neuroscience , magnetic resonance imaging , psychology , atrophy , alzheimer's disease , cognitive decline , pathology , cognition , longitudinal study , medicine , disease , radiology
Comorbid Alzheimer disease pathologies are frequently found in people with Down syndrome (DS). We report a deep phenotyping study undertaken over 7 years in a participant with DS who was nondemented at baseline but developed dementia after 5 years. Methods Throughout the course of the study, the participant was seen 4 times (2010, 2013, 2015, and 2017). Multimodal neuroimaging, including three serial scans of [ 11 C]‐PiB‐PET, four structural magnetic resonance imagings, as well as a [ 18 F]‐AV1451 scan, was interpreted alongside detailed neuropsychological assessments over the study period. Results Amyloid beta accumulation preceded the onset of dementia and cognitive decline, which in turn corresponded to the predominant deposition of tau in temporoparietal cortices. Discussion Until now, data on the longitudinal trajectories of amyloid accumulation, tau pathology, and brain atrophy over multiple time points remain scarce in DS. This case report highlights the potential for deep phenotyping imaging to elucidate the substrates of cognitive decline in DS, although further longitudinal studies are necessary to clarify the relative contributions of both amyloid and tau.